Results 81 to 90 of about 24,692 (277)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
Orphanet Journal of Rare Diseases, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A.
Shanice Beerepoot +5 more
semanticscholar +1 more source
Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study
Annals of Clinical and Translational Neurology, 2020 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA), resulting in severe motor and cognitive dysfunction.
C. í Dali +8 more
semanticscholar +1 more source
In vivo targeting of a variant causing vanishing white matter using CRISPR/Cas9
Molecular Therapy: Methods & Clinical Development, 2022 Vanishing white matter (VWM) is a leukodystrophy caused by recessive variants in subunits of eIF2B. At present, no curative treatment is available and patients often die at young age.
Anne E.J. Hillen +7 more
doaj +1 more source
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]
, 2019 BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B. +8 more
core +1 more source
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination [PDF]
, 2019 Background and purpose Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases.
Al-Shahrani, SA +37 more
core +2 more sources
Advanced Science, EarlyView.Nuclear mechanical properties are inherently scale‐dependent, arising from a hierarchical architecture that spans DNA, chromatin, the nuclear envelope, and condensates. Experimental techniques and theoretical models are integrated into a cohesive multiscale framework linking nanoscale structural features to organelle‐level mechanical behavior.
Xinran Liu +15 more
wiley +1 more source
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency
Orphanet Journal of Rare DiseasesBackground Alpha-methylacyl-CoA racemase (AMACR) deficiency is a rare peroxisomal enzyme deficiency caused by biallelic variants in the AMACR gene. This deficiency leads to the accumulation of toxic bile acid intermediates (R)-trihydroxycholestenoic acid
Femke C.C. Klouwer +8 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Cells, 2021 Biallelic pathogenic variants in CLPP, encoding mitochondrial matrix peptidase ClpP, cause a rare autosomal recessive condition, Perrault syndrome type 3 (PRLTS3). It is characterized by primary ovarian insufficiency and early sensorineural hearing loss,
Jana Key +13 more
doaj +1 more source